Mitochondrial DNA perspective of Serbian genetic diversity

Abstract

Although south-Slavic populations have been studied to date from various aspects, the population of Serbia, occupying the central part of the Balkan Peninsula, is still genetically understudied at least at the level of mitochondrial DNA (mtDNA) variation. We analyzed polymorphisms of the first and the second mtDNA hypervariable segments (HVS-I and HVS-II) and informative coding-region markers in 139 Serbians to shed more light on their mtDNA variability, and used available data on other Slavic and neighboring non-Slavic populations to assess their interrelations in a broader European context. The contemporary Serbian mtDNA profile is consistent with the general European maternal landscape having a substantial proportion of shared haplotypes with eastern, central, and southern European populations. Serbian population was characterized as an important link between easternmost and westernmost south-Slavic populations due to the observed lack of genetic differentiation with all other south-Slavic populations and its geographical positioning within the Balkan Peninsula. An increased heterogeneity of south Slavs, most likely mirroring turbulent demographic events within the Balkan Peninsula over time (i.e., frequent admixture and differential introgression of various gene pools), and a marked geographical stratification of Slavs to south-, east-, and west-Slavic groups, were also found. A phylogeographic analyses of 20 completely sequenced Serbian mitochondrial genomes revealed not only the presence of mtDNA lineages predominantly found within the Slavic gene pool (U4a2a*, U4a2a1, U4a2c, U4a2g, HV10), supporting a common Slavic origin, but also lineages that may have originated within the southern Europe (H5*, H5e1, H5a1v) and the Balkan Peninsula in particular (H6a2b and L2a1k).

MtDNA variations in three main ethnic groups in Tuzla Canton of Bosnia and Herzegovina

“…Bosnian Serbian U-haplotypes, beside haplogroup U51b, belong to the components of Middle Upper Palaeolithic U4 and U2 (Richards et al, 2000). In our study, the frequency of the haplogroup U4a2 (5.56%) in Bosnian-Serbs is in accordance with the frequency of this haplogroup in the previous studies of the Serbian populations, 8.63% (Davidović et al, 2015) -6.80 % (Cvjetan et al, 2004). Also, the ethnic group of Bosnian Serbs from central Bosnia and Banja Luka (Kovačević et al, 2014) indicates an increased frequency of this haplogroup (10.53%).…”

“…In our study, gene pool of the Bosniak group contains African/Near East lineages N1a with mutation 16147G (Palanichamy et al, 2010), which occurred in Europe 7500 years ago (Haak et al, 2005). This haplotype is observed in the neighboring population from Serbia, in individuals who originated from Bosnia (Davidović et al, 2015). Other lineages of the European/Middle Eastern origin (T, K, X and W) with frequency < 5.00% in the ethnic populations were observed.…”

“…Increased differentiation (5.8%) between ethnic groups of the Bosnian-Croats and Bosnian-Bosniaks, as well as Bosnian-Croats and Bosnian-Serbs observed in the study by Marjanović et al (2005), based on analysis of the Y-chromosome haplogroups, is probably a consequence of internal immigration of the Croats from the region of Herzegovina. For clearer positioning of the analyzed ethnic groups of Tuzla Canton in the context of populations of former Yugoslavia, we compared the obtained data at the level of frequencies of haplogroups with those obtained in previous studies of the populations: Croatia, Herzegovina (Cvjetan et al, 2004), Serbia (Davidović et al, 2015;Cvjetan et al, 2004), Slovenia (Šarac et al 2014(Šarac et al Cvjetan et al, 2004 and the previously studies populations from Bosnia and Herzegovina (Cvjetan et al, 2004;Malyrchuk et al, 2003). Lower values of the haplogroup diversity were observed between the Bosnian Bosniaks and the comparative European populations (table 4).…”

“…Figure 1. Multi-dimensional scaling plot of populations according to pairwise F ST , constructed from the following data: BBosnianks -Bosnian Bosniaks; BCroats -Bosnian Croats; BSerbs -Bosnian Serbs (this study); Bos1 -Bosnian population; Slo1-Slovenian population (Malyrchuk et al, 2003); (Bos2 -Bosnian population; Croats2 -Croatian population; Serbs2-Serbian population; Her2 -Herzegovinian population; Mac2-Macedonian population (Cvjetan et al, 2004); Serbs3 -Serbian population (Davidović et al, 2015); Slov4 -Slovenian population (Šarac et al, 2014)…”

A glance of genetic relations in the Balkan populations utilizing network analysis based on in silico assigned Y-DNA haplogroups

“…Therefore, the overall gene pool of Europe was turbulently mixed many times. (Özdoğan, 2011;Davidović et al 2015;Šarac et al 2016;Veldhuis and Underdown 2017).…”